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Article

Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.

Medicine - 23 Apr 2021

Zhan Qian, Lv Zili, Tang Qing, Huang Li, Chen Xiuqi, Yang Meixiong, Lan Liancheng, Shan Qingwen

Abstract excerpt

RATIONALE: Glycogen storage disease (GSD) type VI is a rare disease caused by the inherited deficiency of liver phosphorylase. PATIENT CONCERNS: The proband, a 61-month-old Chinese boy, manifested intermittent hematochezia, growth retardation, hepatomegaly, damage of liver function, mild hypoglycemia, and hyperlactatemia. The other patient was a 107-month-old Chinese girl with growth retardation, hepatomegaly,...

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Identifiers

PMID: 33879691
DOI: 10.1097/MD.0000000000025520
PMCID: PMC8078372

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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